Associated Papers
High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.
Amaratunga SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
Asif M et al.
Cells, 2023
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom EUH et al.
Genes, 2021
Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
Nguyen TH et al.
Genes & Genomics, 2021
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Rossi-Espagnet MC et al.
American Journal of Medical Genetics. Part A, 2020
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2020
Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.
Ghosh S et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2020
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Dehghan Tezerjani M et al.
Frontiers in Pediatrics, 2020
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
Dieks JK et al.
European Journal of Pediatrics, 2014
The smallest teeth in the world are caused by mutations in the PCNT gene.
Kantaputra P et al.
American Journal of Medical Genetics. Part A, 2011
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A et al.
Science (new York, N.y.), 2008